A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718556



Internal ID10302192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39878496..39894904hg38UCSC Ensembl
Outerchr19:40369136..40385544hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3816409
hg1916409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6898392, essv6792945, essv6946146, essv6874454, essv6914807
SamplesSSM002, SSM023, SSM091, SSM070, SSM099
Known GenesFCGBP
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2718556
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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